Canonical Allele Identifier: CA913090804

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73717216_73717217del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490089_73490090del , CM000664.2:g.73490089_73490090del	GRCh38
NC_000002.11:g.73717216_73717217del , CM000664.1:g.73717216_73717217del	GRCh37
NC_000002.10:g.73570724_73570725del	NCBI36
NG_011690.1:g.109337_109338del , LRG_741:g.109337_109338del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7749_7750del	ENSP00000507671.1:p.Lys2583AsnfsTer14
ENST00000682801.1:c.7749_7750del	ENSP00000507862.1:p.Lys2583AsnfsTer14
ENST00000682859.1:c.7749_7750del	ENSP00000508222.1:p.Lys2583AsnfsTer14
ENST00000683791.1:c.1141_1142del
ENST00000684460.1:c.5201_5202del
ENST00000684548.1:c.7749_7750del	ENSP00000507421.1:p.Lys2583AsnfsTer14
ENST00000684590.1:c.2196_2197del	ENSP00000507376.1:p.Lys732AsnfsTer14
ENST00000684656.1:c.5201_5202del
ENST00000613296.6:c.8130_8131del MANE Select	ENSP00000482968.1:p.Lys2710AsnfsTer14
ENST00000651434.1:c.896-29686_896-29685del
ENST00000423048.5:c.2961_2962del	ENSP00000399833.1:p.Lys987AsnfsTer14
ENST00000484298.5:c.8004_8005del	ENSP00000478155.1:p.Lys2668AsnfsTer14
ENST00000613296.4:c.8130_8131del	ENSP00000482968.1:p.Lys2710AsnfsTer14
ENST00000614410.4:c.8130_8131del	ENSP00000479094.1:p.Lys2710AsnfsTer14
ENST00000620466.4:n.1933_1934del
NM_015120.4:c.8133_8134del , LRG_741t1:c.8133_8134del	NP_055935.4:p.Lys2711AsnfsTer14
NM_001378454.1:c.8130_8131del MANE Select	NP_001365383.1:p.Lys2710AsnfsTer14